Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Involuntary movements (HP:0004305)

Parent Node:
Tremor (HP:0001337)

..Starting node
..Action tremor (HP:0002345)

Term ID:

2345

Name:

Action tremor

Synonym:

Ataxic tremor

Definition:

A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.

Comments:

Reference:

HP:0002345

Genes and Diseases:

Child Nodes:

........

Postural tremor (HP:0002174)

................... HP:0007351 Upper limb postural tremor

........

Vocal tremor (HP:0012477)

........

Isometric tremor (HP:0030185)

........

Kinetic tremor (HP:0030186)

................... HP:0002080 Intention tremor

........

Titubation (HP:0030187)

................... HP:0002599 Head titubation
................... HP:0030147 Truncal titubation

Sister Nodes:

Resting tremor (HP:0002322)

Rubral tremor (HP:0030665)

Tremor by anatomical site (HP:0030188)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002345	HP:0002345	Action tremor	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002345	HP:0002345	Action tremor	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0002345	HP:0002345	Action tremor	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0002345	HP:0002345	Action tremor	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0002345	HP:0002345	Action tremor	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002345	HP:0002345	Action tremor	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0002345	HP:0002345	Action tremor	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0002345	HP:0002345	Action tremor	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0002345	HP:0002345	Action tremor	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0002345	HP:0002345	Action tremor	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0002345	HP:0002345	Action tremor	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0002345	HP:0002345	Action tremor	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0002345	HP:0002345	Action tremor	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0002345	HP:0002345	Action tremor	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10		64
HP:0002345	HP:0002345	Action tremor	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0002345	HP:0002345	Action tremor	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002345	HP:0002345	Action tremor	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0002345	HP:0002345	Action tremor	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type		72
HP:0002345	HP:0002345	Action tremor	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0002345	HP:0002345	Action tremor	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002345	HP:0002345	Action tremor	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0002345	HP:0002345	Action tremor	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis		100
HP:0002345	HP:0002345	Action tremor	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0002345	HP:0002345	Action tremor	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0002345	HP:0002345	Action tremor	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0002345	HP:0002345	Action tremor	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0002345	HP:0002345	Action tremor	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0002345	HP:0002345	Action tremor	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0002345	HP:0002345	Action tremor	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002345	HP:0002345	Action tremor	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0002345	HP:0002345	Action tremor	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0002345	HP:0002345	Action tremor	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0002345	HP:0002345	Action tremor	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0002345	HP:0002345	Action tremor	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0002345	HP:0002345	Action tremor	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002345	HP:0002345	Action tremor	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002345	HP:0002345	Action tremor	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0002345	HP:0002345	Action tremor	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002345	HP:0002345	Action tremor	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0002345	HP:0002345	Action tremor	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0002345	HP:0002345	Action tremor	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0002345	HP:0002345	Action tremor	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0002345	HP:0002345	Action tremor	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27	.	702
HP:0002345	HP:0002345	Action tremor	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040282 - Frequent	702
HP:0002345	HP:0002345	Action tremor	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0002345	HP:0002345	Action tremor	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0002345	HP:0002345	Action tremor	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1		51
HP:0002345	HP:0002345	Action tremor	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0002345	HP:0002345	Action tremor	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0002345	HP:0002345	Action tremor	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002345	HP:0002345	Action tremor	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0002345	HP:0002345	Action tremor	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0002345	HP:0002345	Action tremor	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0002345	HP:0002345	Action tremor	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002345	HP:0002345	Action tremor	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0002345	HP:0002345	Action tremor	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0002345	HP:0002345	Action tremor	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0002345	HP:0002345	Action tremor	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0002345	HP:0002345	Action tremor	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0002345	HP:0002345	Action tremor	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0002345	HP:0002345	Action tremor	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0002345	HP:0002345	Action tremor	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0002345	HP:0002345	Action tremor	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0002345	HP:0002345	Action tremor	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0002345	HP:0002345	Action tremor	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002345	HP:0002345	Action tremor	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0002345	HP:0002345	Action tremor	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0002345	HP:0002345	Action tremor	0	FUS CL E G H	2521	4010	OMIM:614782	TREMOR, HEREDITARY ESSENTIAL, 4; ETM4		105
HP:0002345	HP:0002345	Action tremor	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0002345	HP:0002345	Action tremor	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	134
HP:0002345	HP:0002345	Action tremor	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	139
HP:0002345	HP:0002345	Action tremor	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0002345	HP:0002345	Action tremor	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0002345	HP:0002345	Action tremor	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0002345	HP:0002345	Action tremor	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0002345	HP:0002345	Action tremor	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0002345	HP:0002345	Action tremor	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0002345	HP:0002345	Action tremor	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0002345	HP:0002345	Action tremor	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0002345	HP:0002345	Action tremor	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0002345	HP:0002345	Action tremor	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0002345	HP:0002345	Action tremor	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0002345	HP:0002345	Action tremor	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0002345	HP:0002345	Action tremor	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0002345	HP:0002345	Action tremor	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0002345	HP:0002345	Action tremor	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0002345	HP:0002345	Action tremor	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0002345	HP:0002345	Action tremor	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0002345	HP:0002345	Action tremor	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0002345	HP:0002345	Action tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0002345	HP:0002345	Action tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29		177
HP:0002345	HP:0002345	Action tremor	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0002345	HP:0002345	Action tremor	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0002345	HP:0002345	Action tremor	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0002345	HP:0002345	Action tremor	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040282 - Frequent	121
HP:0002345	HP:0002345	Action tremor	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0002345	HP:0002345	Action tremor	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002345	HP:0002345	Action tremor	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002345	HP:0002345	Action tremor	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58		38
HP:0002345	HP:0002345	Action tremor	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0002345	HP:0002345	Action tremor	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002345	HP:0002345	Action tremor	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0002345	HP:0002345	Action tremor	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0002345	HP:0002345	Action tremor	0	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0002345	HP:0002345	Action tremor	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002345	HP:0002345	Action tremor	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0002345	HP:0002345	Action tremor	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0002345	HP:0002345	Action tremor	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0002345	HP:0002345	Action tremor	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0002345	HP:0002345	Action tremor	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0002345	HP:0002345	Action tremor	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0002345	HP:0002345	Action tremor	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0002345	HP:0002345	Action tremor	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0002345	HP:0002345	Action tremor	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0002345	HP:0002345	Action tremor	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0002345	HP:0002345	Action tremor	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0002345	HP:0002345	Action tremor	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0002345	HP:0002345	Action tremor	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0002345	HP:0002345	Action tremor	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002345	HP:0002345	Action tremor	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002345	HP:0002345	Action tremor	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0002345	HP:0002345	Action tremor	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0002345	HP:0002345	Action tremor	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy		2
HP:0002345	HP:0002345	Action tremor	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0002345	HP:0002345	Action tremor	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002345	HP:0002345	Action tremor	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0002345	HP:0002345	Action tremor	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345	HP:0002345	Action tremor	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002345	HP:0002345	Action tremor	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0002345	HP:0002345	Action tremor	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0002345	HP:0002345	Action tremor	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002345	HP:0002345	Action tremor	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0002345	HP:0002345	Action tremor	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	225
HP:0002345	HP:0002345	Action tremor	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0002345	HP:0002345	Action tremor	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002345	HP:0002345	Action tremor	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002345	HP:0002345	Action tremor	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0002345	HP:0002345	Action tremor	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002345	HP:0002345	Action tremor	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0002345	HP:0002345	Action tremor	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0002345	HP:0002345	Action tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0002345	HP:0002345	Action tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002345	HP:0002345	Action tremor	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002345	HP:0002345	Action tremor	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0002345	HP:0002345	Action tremor	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0002345	HP:0002345	Action tremor	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002345	HP:0002345	Action tremor	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0002345	HP:0002345	Action tremor	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0002345	HP:0002345	Action tremor	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0002345	HP:0002345	Action tremor	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0002345	HP:0002345	Action tremor	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0002345	HP:0002345	Action tremor	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0002345	HP:0002345	Action tremor	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0002345	HP:0002345	Action tremor	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002345	HP:0002345	Action tremor	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0002345	HP:0002345	Action tremor	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0002345	HP:0002345	Action tremor	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0002345	HP:0002345	Action tremor	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002345	HP:0002345	Action tremor	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0002345	HP:0002345	Action tremor	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0002345	HP:0002345	Action tremor	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0002345	HP:0002345	Action tremor	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040282 - Frequent	5
HP:0002345	HP:0002345	Action tremor	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0002345	HP:0002345	Action tremor	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1		133
HP:0002345	HP:0002345	Action tremor	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16		37
HP:0002345	HP:0002345	Action tremor	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0002345	HP:0002345	Action tremor	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0002345	HP:0002345	Action tremor	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002345	HP:0002345	Action tremor	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0002345	HP:0002345	Action tremor	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0002345	HP:0002345	Action tremor	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002345	HP:0002345	Action tremor	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0002345	HP:0002345	Action tremor	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002345	HP:0002345	Action tremor	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0002345	HP:0002345	Action tremor	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0002345	HP:0002345	Action tremor	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002345	HP:0002345	Action tremor	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0002345	HP:0002345	Action tremor	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0002345	HP:0002345	Action tremor	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0002345	HP:0002345	Action tremor	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0002345	HP:0002345	Action tremor	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1		77
HP:0002345	HP:0002345	Action tremor	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	1053
HP:0002345	HP:0002345	Action tremor	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	126
HP:0002345	HP:0002345	Action tremor	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	427
HP:0002345	HP:0002345	Action tremor	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	318
HP:0002345	HP:0002345	Action tremor	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy		4
HP:0002345	HP:0002345	Action tremor	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0002345	HP:0002345	Action tremor	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002345	HP:0002345	Action tremor	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0002345	HP:0002345	Action tremor	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0002345	HP:0002345	Action tremor	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002345	HP:0002345	Action tremor	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002345	HP:0002345	Action tremor	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0002345	HP:0002345	Action tremor	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0002345	HP:0002345	Action tremor	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	.	2
HP:0002345	HP:0002345	Action tremor	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002345	HP:0002345	Action tremor	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0002345	HP:0002345	Action tremor	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0002345	HP:0002345	Action tremor	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345	HP:0002345	Action tremor	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia		126
HP:0002345	HP:0002345	Action tremor	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0002345	HP:0002345	Action tremor	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14		126
HP:0002345	HP:0002345	Action tremor	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0002345	HP:0002345	Action tremor	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0002345	HP:0002345	Action tremor	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002345	HP:0002345	Action tremor	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0002345	HP:0002345	Action tremor	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0002345	HP:0002345	Action tremor	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0002345	HP:0002345	Action tremor	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0002345	HP:0002345	Action tremor	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35		58
HP:0002345	HP:0002345	Action tremor	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		80
HP:0002345	HP:0002345	Action tremor	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002345	HP:0002345	Action tremor	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0002345	HP:0002345	Action tremor	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002345	HP:0002345	Action tremor	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0002345	HP:0002345	Action tremor	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0002345	HP:0002345	Action tremor	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345	HP:0002345	Action tremor	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0002345	HP:0002345	Action tremor	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0002345	HP:0002345	Action tremor	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia		203
HP:0002345	HP:0002345	Action tremor	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7		203
HP:0002345	HP:0002345	Action tremor	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		2
HP:0002345	HP:0002345	Action tremor	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0002345	HP:0002345	Action tremor	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002345	HP:0002345	Action tremor	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0002345	HP:0002345	Action tremor	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0002345	HP:0002345	Action tremor	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8
HP:0002345	HP:0002345	Action tremor	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0002345	HP:0002345	Action tremor	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1		111
HP:0002345	HP:0002345	Action tremor	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0002345	HP:0002345	Action tremor	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0002345	HP:0002345	Action tremor	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0002345	HP:0002345	Action tremor	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1		109
HP:0002345	HP:0002345	Action tremor	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0002345	HP:0030187	Titubation	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002345	HP:0030186	Kinetic tremor	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0002345	HP:0030186	Kinetic tremor	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0002345	HP:0030187	Titubation	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0002345	HP:0030186	Kinetic tremor	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002345	HP:0030186	Kinetic tremor	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040283 - Occasional	86
HP:0002345	HP:0030186	Kinetic tremor	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0002345	HP:0002174	Postural tremor	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0002345	HP:0002174	Postural tremor	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0002345	HP:0030187	Titubation	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0002345	HP:0030187	Titubation	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0002345	HP:0030186	Kinetic tremor	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0002345	HP:0030186	Kinetic tremor	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0002345	HP:0030186	Kinetic tremor	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10		64
HP:0002345	HP:0002174	Postural tremor	1	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0002345	HP:0012477	Vocal tremor	1	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040282 - Frequent	17
HP:0002345	HP:0030186	Kinetic tremor	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002345	HP:0030186	Kinetic tremor	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0002345	HP:0030186	Kinetic tremor	1	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type		72
HP:0002345	HP:0030186	Kinetic tremor	1	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0002345	HP:0030186	Kinetic tremor	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002345	HP:0002174	Postural tremor	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040284 - Very rare	100
HP:0002345	HP:0030186	Kinetic tremor	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1		19
HP:0002345	HP:0030186	Kinetic tremor	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0002345	HP:0002174	Postural tremor	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0002345	HP:0030186	Kinetic tremor	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent	9
HP:0002345	HP:0002174	Postural tremor	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002345	HP:0030186	Kinetic tremor	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0002345	HP:0002174	Postural tremor	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0002345	HP:0030187	Titubation	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0002345	HP:0002174	Postural tremor	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0002345	HP:0002174	Postural tremor	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0002345	HP:0030186	Kinetic tremor	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0002345	HP:0030186	Kinetic tremor	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002345	HP:0002174	Postural tremor	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002345	HP:0030186	Kinetic tremor	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0002345	HP:0030186	Kinetic tremor	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0002345	HP:0002174	Postural tremor	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0002345	HP:0030186	Kinetic tremor	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0002345	HP:0030186	Kinetic tremor	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0002345	HP:0002174	Postural tremor	1	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27	.	702
HP:0002345	HP:0002174	Postural tremor	1	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0002345	HP:0002174	Postural tremor	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002345	HP:0002174	Postural tremor	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional	54
HP:0002345	HP:0002174	Postural tremor	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0030186	Kinetic tremor	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1		51
HP:0002345	HP:0030186	Kinetic tremor	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0002345	HP:0030186	Kinetic tremor	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0002345	HP:0030186	Kinetic tremor	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002345	HP:0002174	Postural tremor	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0002345	HP:0002174	Postural tremor	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0002345	HP:0030187	Titubation	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002345	HP:0030186	Kinetic tremor	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0002345	HP:0030186	Kinetic tremor	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0002345	HP:0030186	Kinetic tremor	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0002345	HP:0030186	Kinetic tremor	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0002345	HP:0030186	Kinetic tremor	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0002345	HP:0030186	Kinetic tremor	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0002345	HP:0030186	Kinetic tremor	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0002345	HP:0030186	Kinetic tremor	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0002345	HP:0002174	Postural tremor	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0002345	HP:0030187	Titubation	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0002345	HP:0002174	Postural tremor	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome	.	30
HP:0002345	HP:0030186	Kinetic tremor	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002345	HP:0030186	Kinetic tremor	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0002345	HP:0030187	Titubation	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0002345	HP:0002174	Postural tremor	1	FUS CL E G H	2521	4010	OMIM:614782	TREMOR, HEREDITARY ESSENTIAL, 4; ETM4		105
HP:0002345	HP:0030186	Kinetic tremor	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0002345	HP:0002174	Postural tremor	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0002345	HP:0002174	Postural tremor	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0002345	HP:0002174	Postural tremor	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	.	86
HP:0002345	HP:0030186	Kinetic tremor	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0002345	HP:0030187	Titubation	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0002345	HP:0030186	Kinetic tremor	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0002345	HP:0030186	Kinetic tremor	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0002345	HP:0030186	Kinetic tremor	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0002345	HP:0030186	Kinetic tremor	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0002345	HP:0030186	Kinetic tremor	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0002345	HP:0030187	Titubation	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0002345	HP:0030186	Kinetic tremor	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0002345	HP:0030187	Titubation	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0002345	HP:0030186	Kinetic tremor	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0002345	HP:0030187	Titubation	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040283 - Occasional	1
HP:0002345	HP:0002174	Postural tremor	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0002345	HP:0030186	Kinetic tremor	1	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0002345	HP:0002174	Postural tremor	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0002345	HP:0002174	Postural tremor	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0002345	HP:0030186	Kinetic tremor	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0002345	HP:0030187	Titubation	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0002345	HP:0002174	Postural tremor	1	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16		177
HP:0002345	HP:0030186	Kinetic tremor	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29		177
HP:0002345	HP:0030187	Titubation	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0002345	HP:0002174	Postural tremor	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0002345	HP:0030186	Kinetic tremor	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0002345	HP:0030186	Kinetic tremor	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002345	HP:0030186	Kinetic tremor	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002345	HP:0030187	Titubation	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0002345	HP:0030186	Kinetic tremor	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58		38
HP:0002345	HP:0030187	Titubation	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0002345	HP:0030186	Kinetic tremor	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002345	HP:0030187	Titubation	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0002345	HP:0030186	Kinetic tremor	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0002345	HP:0030186	Kinetic tremor	1	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0002345	HP:0030187	Titubation	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0002345	HP:0030186	Kinetic tremor	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0002345	HP:0002174	Postural tremor	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0002345	HP:0030187	Titubation	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040283 - Occasional	4
HP:0002345	HP:0030186	Kinetic tremor	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome	.	22
HP:0002345	HP:0002174	Postural tremor	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0002345	HP:0030186	Kinetic tremor	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0002345	HP:0002174	Postural tremor	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0002345	HP:0002174	Postural tremor	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0002345	HP:0030186	Kinetic tremor	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0002345	HP:0002174	Postural tremor	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0002345	HP:0002174	Postural tremor	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0002345	HP:0002174	Postural tremor	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0002345	HP:0002174	Postural tremor	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional	82
HP:0002345	HP:0002174	Postural tremor	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional	65
HP:0002345	HP:0030186	Kinetic tremor	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0002345	HP:0002174	Postural tremor	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040283 - Occasional	117
HP:0002345	HP:0030186	Kinetic tremor	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0002345	HP:0030187	Titubation	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy		2
HP:0002345	HP:0030187	Titubation	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0002345	HP:0030186	Kinetic tremor	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002345	HP:0030186	Kinetic tremor	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0002345	HP:0012477	Vocal tremor	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345	HP:0002174	Postural tremor	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345	HP:0030186	Kinetic tremor	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345	HP:0002174	Postural tremor	1	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002345	HP:0002174	Postural tremor	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0002345	HP:0002174	Postural tremor	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent	163
HP:0002345	HP:0030186	Kinetic tremor	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002345	HP:0002174	Postural tremor	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0002345	HP:0030186	Kinetic tremor	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0002345	HP:0030187	Titubation	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002345	HP:0030186	Kinetic tremor	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002345	HP:0002174	Postural tremor	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002345	HP:0030186	Kinetic tremor	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0002345	HP:0030186	Kinetic tremor	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002345	HP:0002174	Postural tremor	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0002345	HP:0030187	Titubation	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0002345	HP:0030186	Kinetic tremor	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0002345	HP:0002174	Postural tremor	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002345	HP:0030186	Kinetic tremor	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002345	HP:0030187	Titubation	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002345	HP:0030187	Titubation	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0002345	HP:0030187	Titubation	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60
HP:0002345	HP:0030186	Kinetic tremor	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002345	HP:0002174	Postural tremor	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0002345	HP:0002174	Postural tremor	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0002345	HP:0030186	Kinetic tremor	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0002345	HP:0030186	Kinetic tremor	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0002345	HP:0002174	Postural tremor	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0002345	HP:0002174	Postural tremor	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0002345	HP:0030186	Kinetic tremor	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0002345	HP:0030186	Kinetic tremor	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002345	HP:0002174	Postural tremor	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0002345	HP:0030186	Kinetic tremor	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0002345	HP:0030186	Kinetic tremor	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002345	HP:0030186	Kinetic tremor	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0002345	HP:0030186	Kinetic tremor	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0002345	HP:0002174	Postural tremor	1	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional	5
HP:0002345	HP:0030186	Kinetic tremor	1	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12		5
HP:0002345	HP:0002174	Postural tremor	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0002345	HP:0030186	Kinetic tremor	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1		133
HP:0002345	HP:0002174	Postural tremor	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0002345	HP:0002174	Postural tremor	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0002345	HP:0030186	Kinetic tremor	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0002345	HP:0030186	Kinetic tremor	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002345	HP:0030186	Kinetic tremor	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0002345	HP:0030186	Kinetic tremor	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0002345	HP:0030186	Kinetic tremor	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002345	HP:0030186	Kinetic tremor	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0002345	HP:0030186	Kinetic tremor	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002345	HP:0002174	Postural tremor	1	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040283 - Occasional	3
HP:0002345	HP:0030186	Kinetic tremor	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0002345	HP:0002174	Postural tremor	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002345	HP:0030186	Kinetic tremor	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0002345	HP:0030186	Kinetic tremor	1	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0002345	HP:0030186	Kinetic tremor	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0002345	HP:0030186	Kinetic tremor	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure		77
HP:0002345	HP:0002174	Postural tremor	1	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0002345	HP:0030186	Kinetic tremor	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1		77
HP:0002345	HP:0030186	Kinetic tremor	1	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy		4
HP:0002345	HP:0030186	Kinetic tremor	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0002345	HP:0030186	Kinetic tremor	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002345	HP:0002174	Postural tremor	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0002345	HP:0030187	Titubation	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0002345	HP:0030187	Titubation	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002345	HP:0030186	Kinetic tremor	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002345	HP:0030186	Kinetic tremor	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0002345	HP:0030186	Kinetic tremor	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002345	HP:0030186	Kinetic tremor	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0002345	HP:0030187	Titubation	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0002345	HP:0030185	Isometric tremor	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345	HP:0030186	Kinetic tremor	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345	HP:0030187	Titubation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345	HP:0030186	Kinetic tremor	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia		126
HP:0002345	HP:0030186	Kinetic tremor	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0002345	HP:0030186	Kinetic tremor	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14		126
HP:0002345	HP:0030187	Titubation	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0002345	HP:0002174	Postural tremor	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0002345	HP:0030186	Kinetic tremor	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0002345	HP:0030186	Kinetic tremor	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0002345	HP:0030186	Kinetic tremor	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0002345	HP:0002174	Postural tremor	1	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0002345	HP:0030186	Kinetic tremor	1	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0002345	HP:0030186	Kinetic tremor	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0002345	HP:0030186	Kinetic tremor	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35		58
HP:0002345	HP:0002174	Postural tremor	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0002345	HP:0030187	Titubation	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002345	HP:0030186	Kinetic tremor	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002345	HP:0030186	Kinetic tremor	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0002345	HP:0002174	Postural tremor	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0002345	HP:0030186	Kinetic tremor	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0002345	HP:0030186	Kinetic tremor	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345	HP:0030187	Titubation	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345	HP:0030186	Kinetic tremor	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0002345	HP:0030186	Kinetic tremor	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0002345	HP:0002174	Postural tremor	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040283 - Occasional	203
HP:0002345	HP:0002174	Postural tremor	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0002345	HP:0002174	Postural tremor	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0002345	HP:0002174	Postural tremor	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0002345	HP:0030187	Titubation	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002345	HP:0030186	Kinetic tremor	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002345	HP:0002174	Postural tremor	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002345	HP:0030186	Kinetic tremor	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0002345	HP:0002174	Postural tremor	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0002345	HP:0030186	Kinetic tremor	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1		111
HP:0002345	HP:0030187	Titubation	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0002345	HP:0030186	Kinetic tremor	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0002345	HP:0030186	Kinetic tremor	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	.	109
HP:0002345	HP:0002599	Head titubation	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002345	HP:0002080	Intention tremor	2	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0002345	HP:0002080	Intention tremor	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0002345	HP:0030147	Truncal titubation	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0002345	HP:0002080	Intention tremor	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002345	HP:0002080	Intention tremor	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0002345	HP:0002599	Head titubation	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0002345	HP:0002599	Head titubation	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0002345	HP:0002080	Intention tremor	2	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0002345	HP:0002080	Intention tremor	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	64
HP:0002345	HP:0002080	Intention tremor	2	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	HP:0040283 - Occasional	64
HP:0002345	HP:0007351	Upper limb postural tremor	2	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0002345	HP:0002080	Intention tremor	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002345	HP:0002080	Intention tremor	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0002345	HP:0002080	Intention tremor	2	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.	72
HP:0002345	HP:0002080	Intention tremor	2	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent	72
HP:0002345	HP:0002080	Intention tremor	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002345	HP:0002080	Intention tremor	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0002345	HP:0002080	Intention tremor	2	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0002345	HP:0002080	Intention tremor	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent	9
HP:0002345	HP:0030147	Truncal titubation	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0002345	HP:0002080	Intention tremor	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent	449
HP:0002345	HP:0002080	Intention tremor	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002345	HP:0007351	Upper limb postural tremor	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0002345	HP:0002080	Intention tremor	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0002345	HP:0002080	Intention tremor	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002345	HP:0007351	Upper limb postural tremor	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional	35
HP:0002345	HP:0002080	Intention tremor	2	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0002345	HP:0002080	Intention tremor	2	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0002345	HP:0007351	Upper limb postural tremor	2	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040282 - Frequent	702
HP:0002345	HP:0002080	Intention tremor	2	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	51
HP:0002345	HP:0002080	Intention tremor	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0002345	HP:0002080	Intention tremor	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0002345	HP:0002080	Intention tremor	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0002345	HP:0002599	Head titubation	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002345	HP:0002080	Intention tremor	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	HP:0040283 - Occasional	62
HP:0002345	HP:0002080	Intention tremor	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0002345	HP:0002080	Intention tremor	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002345	HP:0002080	Intention tremor	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002345	HP:0002080	Intention tremor	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0002345	HP:0002080	Intention tremor	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0002345	HP:0002080	Intention tremor	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0002345	HP:0002080	Intention tremor	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0002345	HP:0030147	Truncal titubation	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0002345	HP:0002080	Intention tremor	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0002345	HP:0002080	Intention tremor	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0002345	HP:0002599	Head titubation	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0002345	HP:0002080	Intention tremor	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0002345	HP:0002080	Intention tremor	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0002345	HP:0002080	Intention tremor	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0002345	HP:0002599	Head titubation	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0002345	HP:0002080	Intention tremor	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0002345	HP:0002080	Intention tremor	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39
HP:0002345	HP:0002080	Intention tremor	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002345	HP:0002080	Intention tremor	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002345	HP:0002599	Head titubation	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040284 - Very rare	32
HP:0002345	HP:0002080	Intention tremor	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0002345	HP:0002080	Intention tremor	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0002345	HP:0030147	Truncal titubation	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0002345	HP:0002080	Intention tremor	2	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.	3
HP:0002345	HP:0002080	Intention tremor	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0002345	HP:0030147	Truncal titubation	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0002345	HP:0007351	Upper limb postural tremor	2	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0002345	HP:0002080	Intention tremor	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040281 - Very frequent	177
HP:0002345	HP:0002080	Intention tremor	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0002345	HP:0002080	Intention tremor	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002345	HP:0002080	Intention tremor	2	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002345	HP:0002080	Intention tremor	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional	38
HP:0002345	HP:0002599	Head titubation	2	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0002345	HP:0002080	Intention tremor	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002345	HP:0002599	Head titubation	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional	35
HP:0002345	HP:0002080	Intention tremor	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0002345	HP:0002080	Intention tremor	2	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0002345	HP:0002080	Intention tremor	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002345	HP:0007351	Upper limb postural tremor	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002345	HP:0002599	Head titubation	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002345	HP:0002080	Intention tremor	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002345	HP:0007351	Upper limb postural tremor	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0002345	HP:0002080	Intention tremor	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0002345	HP:0002080	Intention tremor	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0002345	HP:0002080	Intention tremor	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0002345	HP:0002599	Head titubation	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0002345	HP:0002599	Head titubation	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0002345	HP:0002080	Intention tremor	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002345	HP:0002080	Intention tremor	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0002345	HP:0002080	Intention tremor	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002345	HP:0002080	Intention tremor	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	HP:0040283 - Occasional	75
HP:0002345	HP:0002599	Head titubation	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002345	HP:0002080	Intention tremor	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002345	HP:0002080	Intention tremor	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0002345	HP:0002080	Intention tremor	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002345	HP:0002080	Intention tremor	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0002345	HP:0007351	Upper limb postural tremor	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002345	HP:0002599	Head titubation	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002345	HP:0002080	Intention tremor	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002345	HP:0002080	Intention tremor	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002345	HP:0007351	Upper limb postural tremor	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0002345	HP:0002080	Intention tremor	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.	103
HP:0002345	HP:0002080	Intention tremor	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0002345	HP:0002080	Intention tremor	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0002345	HP:0002080	Intention tremor	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002345	HP:0002080	Intention tremor	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0002345	HP:0002080	Intention tremor	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002345	HP:0002080	Intention tremor	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0002345	HP:0002080	Intention tremor	2	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040283 - Occasional	5
HP:0002345	HP:0002080	Intention tremor	2	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	133
HP:0002345	HP:0002080	Intention tremor	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0002345	HP:0002080	Intention tremor	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002345	HP:0002080	Intention tremor	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0002345	HP:0002080	Intention tremor	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0002345	HP:0002080	Intention tremor	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0002345	HP:0002080	Intention tremor	2	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0002345	HP:0002080	Intention tremor	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0002345	HP:0002080	Intention tremor	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0002345	HP:0002080	Intention tremor	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002345	HP:0002080	Intention tremor	2	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0002345	HP:0002080	Intention tremor	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0002345	HP:0002080	Intention tremor	2	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0002345	HP:0002080	Intention tremor	2	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040282 - Frequent	77
HP:0002345	HP:0002080	Intention tremor	2	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0002345	HP:0002080	Intention tremor	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0002345	HP:0002080	Intention tremor	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002345	HP:0002599	Head titubation	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0002345	HP:0030147	Truncal titubation	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0002345	HP:0002080	Intention tremor	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0002345	HP:0002080	Intention tremor	2	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002345	HP:0002080	Intention tremor	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0002345	HP:0002599	Head titubation	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0002345	HP:0002599	Head titubation	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345	HP:0002080	Intention tremor	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345	HP:0002080	Intention tremor	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	126
HP:0002345	HP:0002080	Intention tremor	2	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0002345	HP:0002080	Intention tremor	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0002345	HP:0002599	Head titubation	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0002345	HP:0002080	Intention tremor	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002345	HP:0002080	Intention tremor	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0002345	HP:0002080	Intention tremor	2	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0002345	HP:0002080	Intention tremor	2	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0002345	HP:0002080	Intention tremor	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0002345	HP:0002080	Intention tremor	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0002345	HP:0030147	Truncal titubation	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002345	HP:0002080	Intention tremor	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0002345	HP:0002080	Intention tremor	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0002345	HP:0002080	Intention tremor	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0002345	HP:0002599	Head titubation	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345	HP:0002080	Intention tremor	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345	HP:0002080	Intention tremor	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0002345	HP:0002080	Intention tremor	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0002345	HP:0007351	Upper limb postural tremor	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional	66
HP:0002345	HP:0002599	Head titubation	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0002345	HP:0002080	Intention tremor	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	HP:0040283 - Occasional	21
HP:0002345	HP:0002080	Intention tremor	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0002345	HP:0002080	Intention tremor	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0002345	HP:0002599	Head titubation	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002345	HP:0002080	Intention tremor	2	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1

Genes (195) :AARS1 ABCB7 ABHD12 ACBD5 ADPRS AFG3L2 AKT1 ALDH18A1 ALS2 AMACR ANO10 ANO3 ARSA ATCAY ATM ATN1 ATP13A2 ATP2B3 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN2 BRAT1 BSCL2 CACNA1A CACNA1C CACNA1G CAMTA1 CARS1 CARS2 CCDC88C CLCN2 COL6A3 COQ2 COX1 COX3 CSTB CTDP1 CWF19L1 CYP7B1 CYTB DNAJC19 DNAJC30 DRD3 EIF2AK2 ELOVL4 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 FARS2 FBXO7 FGF14 FLVCR1 FMR1 FUS FXN GABRA1 GABRG2 GALT GCH1 GJB1 GJC2 GSS GTF2E2 GTF2H5 HIBCH HSD17B4 HYCC1 IFRD1 IMPDH2 ITM2B ITPR1 JPH3 KCNC3 KCND3 KCNJ10 KCNK4 KCNN2 KIF1C KNSTRN LAMA1 LEMD2 LMAN2L LMNB1 MAG MAOA MFN2 MPLKIP MPZ MRE11 MYBPC1 ND1 ND2 ND4 ND4L ND5 ND6 NDRG1 NDUFS2 NFASC NGLY1 NIPA1 NKX2-1 NKX6-2 NONO NOP56 NOTCH2NLC NR4A2 OPA3 OPHN1 PARK7 PCDH19 PEX10 PI4KA PIGA PIK3CA PIK3CD PIK3R5 PITRM1 PLA2G6 PLP1 PMM2 PMP22 PNPLA6 POLG POLR3A POLR3B POU4F1 PPP1R15B PPP2R2B PRDX3 PRICKLE1 PRKRA PSAP PTEN QRICH1 RARS1 REEP2 RFC1 RILPL1 RNF113A RNU12 SACS SCARB2 SCN1A SCN1B SCN2A SCN9A SCP2 SCYL1 SEMA6B SETX SIGMAR1 SLC19A3 SLC25A46 SLC30A10 SLC6A17 SLC9A1 SMG9 SNCA SPG11 SPTBN1 SPTBN2 SPTLC1 STUB1 TARS1 TBP TECR TENM4 TGM6 TH THG1L TK2 TMCO1 TMEM106B TMEM240 TMEM63A TMEM70 TPK1 TPP1 TSPOAP1 TUBB4A UCHL1 UFC1 UROC1 VAPB VLDLR VPS13A VWA3B WARS2 XPNPEP3 YWHAG

Diseases (200) :OMIM:619691 OMIM:301310 OMIM:612674 OMIM:618863 OMIM:618170 ORPHA:101109 OMIM:615109 ORPHA:447757 ORPHA:447760 OMIM:205100 ORPHA:300605 OMIM:614307 ORPHA:284289 OMIM:613728 ORPHA:420485 ORPHA:309271 ORPHA:309263 ORPHA:94122 OMIM:601238 OMIM:208900 ORPHA:101 ORPHA:314632 OMIM:302500 ORPHA:314978 ORPHA:104 OMIM:535000 OMIM:300423 ORPHA:93952 ORPHA:98755 ORPHA:98761 OMIM:183090 ORPHA:98756 OMIM:618056 ORPHA:100998 OMIM:270685 ORPHA:98758 OMIM:620029 ORPHA:458803 ORPHA:314647 ORPHA:33364 ORPHA:477774 OMIM:616053 ORPHA:423275 OMIM:615651 OMIM:616411 ORPHA:464440 ORPHA:227510 ORPHA:98933 ORPHA:308 ORPHA:48431 ORPHA:453521 OMIM:616127 OMIM:270800 ORPHA:66634 OMIM:190300 OMIM:618877 OMIM:133190 OMIM:617951 ORPHA:90324 ORPHA:466722 ORPHA:171695 OMIM:193003 ORPHA:88628 OMIM:300623 ORPHA:93256 OMIM:614782 ORPHA:95 ORPHA:33069 ORPHA:79239 ORPHA:98808 OMIM:128230 ORPHA:1175 OMIM:608804 OMIM:613206 OMIM:266130 ORPHA:88639 OMIM:233400 OMIM:610532 ORPHA:98771 OMIM:117300 OMIM:206700 OMIM:606658 OMIM:117360 ORPHA:98769 ORPHA:208513 OMIM:606438 ORPHA:98768 OMIM:607346 ORPHA:199343 OMIM:612780 OMIM:618381 OMIM:619725 ORPHA:397946 OMIM:611302 ORPHA:221139 ORPHA:370022 OMIM:619322 OMIM:617863 ORPHA:99027 ORPHA:459056 OMIM:300615 ORPHA:99947 ORPHA:3115 OMIM:180800 ORPHA:251347 OMIM:618524 ORPHA:99950 OMIM:618356 ORPHA:404454 OMIM:615273 ORPHA:100988 ORPHA:209905 ORPHA:527497 OMIM:617560 ORPHA:466791 ORPHA:276198 OMIM:618866 OMIM:619911 ORPHA:67036 ORPHA:137831 OMIM:606324 OMIM:614871 OMIM:619708 OMIM:301072 OMIM:615108 ORPHA:64753 OMIM:619405 OMIM:610217 OMIM:612953 OMIM:312080 ORPHA:280219 ORPHA:280210 OMIM:212065 OMIM:215470 ORPHA:254886 OMIM:258450 OMIM:607694 ORPHA:447896 OMIM:264090 ORPHA:3455 OMIM:614381 OMIM:619352 OMIM:616817 OMIM:604326 ORPHA:98762 OMIM:619862 ORPHA:210571 OMIM:612067 OMIM:610539 OMIM:158350 OMIM:617982 OMIM:616140 ORPHA:438114 ORPHA:401849 ORPHA:504476 OMIM:619790 ORPHA:512260 ORPHA:98 OMIM:254900 OMIM:613724 ORPHA:466794 OMIM:618876 OMIM:607483 OMIM:616505 ORPHA:309854 OMIM:616269 OMIM:616291 OMIM:619995 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 ORPHA:412057 OMIM:607136 OMIM:614020 OMIM:616736 OMIM:613908 ORPHA:276193 ORPHA:101150 OMIM:618800 OMIM:213980 OMIM:617964 OMIM:607454 OMIM:618688 OMIM:614052 OMIM:614458 ORPHA:284324 OMIM:609270 ORPHA:98805 OMIM:615491 OMIM:618076 OMIM:276880 ORPHA:210128 OMIM:608627 OMIM:224050 ORPHA:2388 OMIM:616948 OMIM:619738 OMIM:613159 OMIM:617665

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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